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PUM1 pumilio RNA binding family member 1 [ Homo sapiens (human) ]

Gene ID: 9698, updated on 7-Apr-2024

Summary

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Official Symbol
PUM1provided by HGNC
Official Full Name
pumilio RNA binding family member 1provided by HGNC
Primary source
HGNC:HGNC:14957
See related
Ensembl:ENSG00000134644 MIM:607204; AllianceGenome:HGNC:14957
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PUMH; HSPUM; PUMH1; PUML1; SCA47; NEDMSF
Summary
This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 21.8), ovary (RPKM 19.8) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p35.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (30931506..31065717, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (30783767..30917854, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31404353..31538564, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31343383-31344254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31358623-31359123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31363707-31364422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31368603-31369362 Neighboring gene syndecan 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31392155-31393153 Neighboring gene RNA, 7SL, cytoplasmic 371, pseudogene Neighboring gene small nucleolar RNA, C/D box 103A Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:31424624-31425823 Neighboring gene small nucleolar RNA, C/D box 103B Neighboring gene small nucleolar RNA, C/D box 103C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31458478-31458978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 637 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31506907-31507408 Neighboring gene 40S ribosomal protein S29-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31529324-31529824 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31538408-31539322 Neighboring gene UPF0764 protein C16orf89-like Neighboring gene selenoprotein W pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin. Elagooz R, et al. Blood Adv, 2022 Dec 13. PMID 35667093, Free PMC Article
  2. RNA binding protein PUM1 promotes colon cancer cell proliferation and migration. Gor R, et al. Int J Biol Macromol, 2021 Mar 31. PMID 33508364
  3. Systematic Analysis of Targets of Pumilio-Mediated mRNA Decay Reveals that PUM1 Repression by DNA Damage Activates Translesion Synthesis. Yamada T, et al. Cell Rep, 2020 May 5. PMID 32375027
  4. Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. Lai KL, et al. Parkinsonism Relat Disord, 2019 Sep. PMID 31422002
  5. PUM1 knockdown prevents tumor progression by activating the PERK/eIF2/ATF4 signaling pathway in pancreatic adenocarcinoma cells. Dai H, et al. Cell Death Dis, 2019 Aug 8. PMID 31395860, Free PMC Article

See all (148) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Circular RNA Derived from the Pumilio 1 Gene Could Regulate PTEN in Human Cumulus Cells.
    Title: A Circular RNA Derived from the Pumilio 1 Gene Could Regulate PTEN in Human Cumulus Cells.
  2. Pumilio1 regulates NPM3/NPM1 axis to promote PD-L1-mediated immune escape in gastric cancer.
    Title: Pumilio1 regulates NPM3/NPM1 axis to promote PD-L1-mediated immune escape in gastric cancer.
  3. PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer.
    Title: PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer.
  4. PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA processing.
    Title: PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA processing.
  5. PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin.
    Title: PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin.
  6. TLR4 downregulation by the RNA-binding protein PUM1 alleviates cellular aging and osteoarthritis.
    Title: TLR4 downregulation by the RNA-binding protein PUM1 alleviates cellular aging and osteoarthritis.
  7. PUMILIO-mediated translational control of somatic cell cycle program promotes folliculogenesis and contributes to ovarian cancer progression.
    Title: PUMILIO-mediated translational control of somatic cell cycle program promotes folliculogenesis and contributes to ovarian cancer progression.
  8. Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line.
    Title: Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line.
  9. PUM1 modulates trophoblast cell proliferation and migration through LRP6.
    Title: PUM1 modulates trophoblast cell proliferation and migration through LRP6.
  10. Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference.
    Title: Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference.
Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
MedGen: CN376901 OMIM: 620719 GeneReviews: Not available
not available
Spinocerebellar ataxia 47
MedGen: C4693672 OMIM: 617931 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0099

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables mRNA 3'-UTR binding TAS
Traceable Author Statement
more info
 PubMed 
enables miRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 3'-UTR-mediated mRNA destabilization TAS
Traceable Author Statement
more info
 PubMed 
involved_in adult locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in mRNA destabilization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in miRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in miRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of RIG-I signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of miRNA-mediated gene silencing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in post-transcriptional gene silencing ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within post-transcriptional regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_positive_effect post-transcriptional regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of chromosome segregation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mRNA stability IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of mRNA stability IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of miRNA-mediated gene silencing TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in P-body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axon IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
pumilio homolog 1
Names
pumilio-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001020658.2 → NP_001018494.1  pumilio homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001018494.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.
    Source sequence(s)
    AF315592, AK222605, AL699026, CN402209
    Consensus CDS
    CCDS44099.1
    UniProtKB/TrEMBL
    Q5T1Z8
    Related
    ENSP00000391723.2, ENST00000426105.7
    Conserved Domains (1) summary
    cd07920
    Location:843 → 1166
    Pumilio; Pumilio-family RNA binding domain

  2. NM_014676.3 → NP_055491.1  pumilio homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_055491.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AF315592, AL699026, CN402209
    Consensus CDS
    CCDS338.1
    UniProtKB/Swiss-Prot
    A8K6W4, B4DG92, D3DPN3, E9PCJ0, Q14671, Q53HH5, Q5VXY7, Q9HAN1
    UniProtKB/TrEMBL
    H0YEH2
    Related
    ENSP00000257075.5, ENST00000257075.9
    Conserved Domains (1) summary
    cd07920
    Location:843 → 1164
    Pumilio; Pumilio-family RNA binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    30931506..31065717 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    30783767..30917854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14671.3 GenPept UniProtKB/Swiss-Prot:Q14671

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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